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Page 1
Neurodevelopmental profile of HIVEP2-related disorder.
Mo A, Snyder LG, Babington O, Chung WK, Sahin M, Srivastava S. Mo A, et al. Dev Med Child Neurol. 2022 May;64(5):654-661. doi: 10.1111/dmcn.15100. Epub 2021 Oct 26. Dev Med Child Neurol. 2022. PMID: 34704275 Free PMC article.
AIM: To characterize the neurodevelopmental profile and systemic features of HIVEP2-related disorder. METHOD: This study used retrospective medical history and standardized assessment data from Simons Searchlight to describe the clinical characteristics of 12 individuals ( …
AIM: To characterize the neurodevelopmental profile and systemic features of HIVEP2-related disorder. METHOD: This study used retrosp …
EGFR/SRC/ERK-stabilized YTHDF2 promotes cholesterol dysregulation and invasive growth of glioblastoma.
Fang R, Chen X, Zhang S, Shi H, Ye Y, Shi H, Zou Z, Li P, Guo Q, Ma L, He C, Huang S. Fang R, et al. Nat Commun. 2021 Jan 8;12(1):177. doi: 10.1038/s41467-020-20379-7. Nat Commun. 2021. PMID: 33420027 Free PMC article.
YTHDF2 facilitates m(6)A-dependent mRNA decay of LXRA and HIVEP2, which impacts the glioma patient survival. YTHDF2 promotes tumorigenesis of GBM cells, largely through the downregulation of LXRalpha and HIVEP2. ...
YTHDF2 facilitates m(6)A-dependent mRNA decay of LXRA and HIVEP2, which impacts the glioma patient survival. YTHDF2 promotes tumorige …
Novel HIVEP2 Variants in Patients with Intellectual Disability.
Park J, Colombo R, Schäferhoff K, Janiri L, Grimmel M, Sturm M, Grasshoff U, Dufke A, Haack TB, Kehrer M. Park J, et al. Mol Syndromol. 2019 Jul;10(4):195-201. doi: 10.1159/000499060. Epub 2019 Apr 3. Mol Syndromol. 2019. PMID: 31602191 Free PMC article.
HIVEP2 serves as a transcriptional factor regulating NF-qB and diverse genes that are essential in neural development. To date, only 8 patients with pathogenic de novo nonsense or frameshift variants and 1 patient with a pathogenic missense variant in HIVEP2 have be …
HIVEP2 serves as a transcriptional factor regulating NF-qB and diverse genes that are essential in neural development. To date, only …
Novel HIVEP2 Variant p.Q1248* is Associated with Developmental Delay: A Case Report.
Jain A, Atwal PS. Jain A, et al. J Pediatr Genet. 2019 Sep;8(3):157-159. doi: 10.1055/s-0039-1683973. Epub 2019 Mar 25. J Pediatr Genet. 2019. PMID: 31406623 Free PMC article.
We performed whole exome sequencing that revealed the involvement of a heterogenous variant p.Gln1248Ter (CAG > TAG): c.3742 C > T inherited de novo in exon 5 of HIVEP2 (human immunodeficiency virus type I enhancer binding protein 2; NM_006734.3). The gene variant p. …
We performed whole exome sequencing that revealed the involvement of a heterogenous variant p.Gln1248Ter (CAG > TAG): c.3742 C > T inh …
Identification of HIVEP2 as a dopaminergic transcription factor related to substance use disorders in rats and humans.
Zhao J, Chen C, Bell RL, Qing H, Lin Z. Zhao J, et al. Transl Psychiatry. 2019 Oct 4;9(1):247. doi: 10.1038/s41398-019-0573-8. Transl Psychiatry. 2019. PMID: 31586043 Free PMC article.
For the first time, we report here that the Human Immunodeficiency Virus Type I Enhancer Binding Protein 2 (HIVEP2) is a dopaminergic transcriptional regulator. HIVEP2 is expressed in both the cytoplasm and nuclei of DA neurons. ...In clinical subjects, extensive an …
For the first time, we report here that the Human Immunodeficiency Virus Type I Enhancer Binding Protein 2 (HIVEP2) is a dopaminergic …
Parental gonadossomatic mosaicism in HIVEP2-related intellectual disability and impact on genetic counseling-case report.
Abreu M, Branco T, Figueiroa S, Reis CF. Abreu M, et al. Front Genet. 2023 Jun 27;14:1156847. doi: 10.3389/fgene.2023.1156847. eCollection 2023. Front Genet. 2023. PMID: 37441550 Free PMC article.
Intellectual development disorder, autosomal dominant 43 (MRD43) is an autosomal dominant disorder caused by heterozygous mutations in the HIVEP2 gene. In this report, we describe a case of a 4-year-old boy with global development delay, hypotonia, and dysmorphic features, …
Intellectual development disorder, autosomal dominant 43 (MRD43) is an autosomal dominant disorder caused by heterozygous mutations in the …
Expanding the Phenotypic Spectrum of HIVEP2-Related Intellectual Disability: Description of Two Portuguese Patients and Review of the Literature.
Quental R, Borges JP, Santos H, Leão M. Quental R, et al. Mol Syndromol. 2022 Dec;13(5):397-401. doi: 10.1159/000521692. Epub 2022 Mar 14. Mol Syndromol. 2022. PMID: 36588750 Free PMC article.
INTRODUCTION: Pathogenic variants in HIVEP2 have been associated with a neurodevelopmental disorder mainly characterized by intellectual disability, severe language impairment, and motor developmental delay. ...METHODS: Here, we report 2 additional unrelated Portuguese chi …
INTRODUCTION: Pathogenic variants in HIVEP2 have been associated with a neurodevelopmental disorder mainly characterized by intellect …
De novo variants underlying monogenic syndromes with intellectual disability in a neurodevelopmental cohort from India.
Pande S, Majethia P, Nair K, Rao LP, Mascarenhas S, Kaur N, do Rosario MC, Neethukrishna K, Chaurasia A, Hunakunti B, Jadhav N, Xavier S, Kumar J, Bhat V, Bhavani GS, Narayanan DL, Yatheesha BL, Patil SJ, Nampoothiri S, Kamath N, Aroor S, Bhat Y R, Lewis LE, Sharma S, Bajaj S, Sankhyan N, Siddiqui S, Nayak SS, Bielas S, Girisha KM, Shukla A. Pande S, et al. Eur J Hum Genet. 2024 Oct;32(10):1291-1298. doi: 10.1038/s41431-023-01513-7. Epub 2023 Dec 20. Eur J Hum Genet. 2024. PMID: 38114583 Free PMC article.
Pathogenic variants were identified in CREBBP, TSC2, KMT2D, MECP2, IDS, NIPBL, NSD1, RIT1, SOX10, BRWD3, FOXG1, BCL11A, KDM6B, KDM5C, SETD5, QRICH1, DCX, SMARCD1, ASXL1, ASXL3, AKT3, FBN2, TCF12, WASF1, BRAF, SMARCA4, SMARCA2, TUBG1, KMT2A, CTNNB1, DLG4, MEIS2, GATAD2B, FBXW7, AN …
Pathogenic variants were identified in CREBBP, TSC2, KMT2D, MECP2, IDS, NIPBL, NSD1, RIT1, SOX10, BRWD3, FOXG1, BCL11A, KDM6B, KDM5C, SETD5, …
Mutations in HIVEP2 are associated with developmental delay, intellectual disability, and dysmorphic features.
Steinfeld H, Cho MT, Retterer K, Person R, Schaefer GB, Danylchuk N, Malik S, Wechsler SB, Wheeler PG, van Gassen KL, Terhal PA, Verhoeven VJ, van Slegtenhorst MA, Monaghan KG, Henderson LB, Chung WK. Steinfeld H, et al. Neurogenetics. 2016 Jul;17(3):159-64. doi: 10.1007/s10048-016-0479-z. Epub 2016 Mar 22. Neurogenetics. 2016. PMID: 27003583 Free PMC article.
Here, we describe six patients with developmental delay, intellectual disability, and dysmorphic features with de novo likely gene-damaging variants in HIVEP2 identified by whole-exome sequencing (WES). HIVEP2 encodes a large transcription factor that regulates vari …
Here, we describe six patients with developmental delay, intellectual disability, and dysmorphic features with de novo likely gene-damaging …
Functional CRISPR dissection of gene networks controlling human regulatory T cell identity.
Schumann K, Raju SS, Lauber M, Kolb S, Shifrut E, Cortez JT, Skartsis N, Nguyen VQ, Woo JM, Roth TL, Yu R, Nguyen MLT, Simeonov DR, Nguyen DN, Targ S, Gate RE, Tang Q, Bluestone JA, Spitzer MH, Ye CJ, Marson A. Schumann K, et al. Nat Immunol. 2020 Nov;21(11):1456-1466. doi: 10.1038/s41590-020-0784-4. Epub 2020 Sep 28. Nat Immunol. 2020. PMID: 32989329 Free PMC article.
We then generated 54,424 single-cell transcriptomes from T(reg) cells subjected to genetic perturbations and cytokine stimulation, which revealed distinct gene networks individually regulated by FOXP3 and PRDM1, in addition to a network coregulated by FOXO1 and IRF4. We also disc …
We then generated 54,424 single-cell transcriptomes from T(reg) cells subjected to genetic perturbations and cytokine stimulation, which rev …
106 results